Xp21 muscular dystrophy due to X chromosome inversion.
case_report · Level V
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- Record sourced from PubMed, PMID 9222202.
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Abstract
Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests that as well as molecular genetic analysis, karyotyping can be useful in Xp21 muscular dystrophy.
Medical subject headings
- Chromosome Inversion
- Muscular Dystrophies
- X Chromosome